- extreme photosensitivity to sunlight and fluorescent bulbs
- blisters on her hands and face, which burst and scar
- enlarged spleen
- liver and kidney failure
- inability to go outside
- intense pain
Here is a link for information on all eight types of porphyria from The American Porphyria Foundation. Here is also a link to a great person who helped me with her sun protective clothing UV SUNGEAR. Also, Colleen at Fun Sunwear has make lots of Aubrey's clothing. You can also follow her progress by reading Aubrey's Updates throughout this experience. Nicholas Ashby has been cured by a bone marrow transplant. To read his story click on his name.
We found out Aubrey's genetic testing results from Mt. Sinai. They found that she has two mutations. One mutation from each parent. Doug and I are both carriers of this disease. They have done testing on Abbagayle to see if she is a match for Aubrey. I banked Abby's cord blood and they could have used that for Aubrey's transplant. Unfortunately, Abby is not her sisters keeper.
Aubrey was admitted to Children's Hospital of Pittsburgh of UPMC on January 11, 2010. She had a stem cell transplant on January 21, 2010. The donor was a 7 out of 8 match. She is doing well and to stay updated on her progress throughout this experience read her blog by clicking on Aubrey's Updates! Please keep her in your prayers. God Bless you and your family.